Table 2.
Rank Order |
Allele frequency, Aa |
Experiment- wise Pb |
Variant locationc |
Distance (bases) |
|||||
---|---|---|---|---|---|---|---|---|---|
Variant | Control | Case | Cytoband | Gene | Gene description | ||||
1 | rs10494334 | 0.18 | 0.23 | 0.035 | 1q23.3 | ||||
2 | rs2323218 | 0.18 | 0.25 | 0.221 | 6q27 | downd | 8,989 | T | T, brachyury homolog |
3 | rs7923687 | 0.83 | 0.79 | 0.426 | 10q25.1 | ||||
4 | rs6121489 | 0.03 | 0.05 | 0.523 | 20q13.33 | introne | CDH4 | cadherin 4, type 1, R-cadherin (retinal) | |
5 | rs3849399 | 0.78 | 0.71 | 0.605 | 2p24.1 | ||||
6 | rs9271 | 0.75 | 0.68 | 0.620 | 17q25.3 | 3′UTRf | WDR45L | DR45-like | |
7 | rs10518620 | 0.89 | 0.84 | 0.632 | 4q28.3 | ||||
8 | rs3893249 | 0.79 | 0.72 | 0.640 | 2p24.1 | ||||
9 | rs1711055 | 0.30 | 0.25 | 0.736 | 15q22.1 | intron | AQP9 | aquaporin 9 | |
10 | rs724729 | 0.73 | 0.63 | 0.741 | 15q14 |
A allele is defined by Affymetrix and can be found at the NetAffx Analysis Center (http://www.affymetrix.com/analysis/index.affx).
Point-wise P value was 0.0003 for all the alleles listed. The t statistic of the observed data was calculated and then the case/control labels of each subject were permuted. For each permutation, a t statistic was obtained. For a sample size of 14 with 8 cases and 6 controls, there are 3,003 total possible permutations. The value 0.0003 was obtained when the observed t statistic is the smallest among 3,003 t statistics (1/3,003 = 0.0003). The originally observed t statistic was compared to the distribution of t statistics composed of 3,003 maximum t statistics to obtain the experiment-wise P value.
Variant location is given when variant is found with 100,000 nucleotides of an annotated gene.
down = distance the variant is located downstream of the polyadenylation site of the specified gene.
intron = variant is located in the intron of specified gene.
3′UTR = variant is located in the 3; untranslated region of the specified gene.
Data is from the NetAffx web site; verified and corrected using the USCS Genome Browser.